Variant #0000520288 (NC_000003.11:g.50382964A>C, RASSF1(NM_001206957.1):c.-5074T>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.50382964A>C
DNA change (hg38) g.50345533A>C
Published as ZMYND10(NM_015896.3):c.47T>G (p.V16G)
ISCN -
DB-ID CYB561D2_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00027 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RASSF1 NM_001206957.1 +/. - c.-5074T>G r.(?) p.(=)
NPRL2 NM_006545.4 +/. - c.*2073T>G r.(=) p.(=)
CYB561D2 NM_007022.3 +/. - c.-5543A>C r.(?) p.(=)
ZMYND10 NM_015896.2 +/. - c.47T>G r.(?) p.(Val16Gly)